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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPLKIP
(Y45*)
Single nucleotide variant
(nonsense)
Trichothiodystrophy 4, nonphotosensitive
GLikely pathogenic
MPLKIP
(S133fs)
Indel
(frameshift variant)
Trichothiodystrophy 4, nonphotosensitive
GLikely pathogenic
MPLKIP
(R126fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MPLKIP
(R77fs)
Deletion
(frameshift variant)
Trichothiodystrophy 4, nonphotosensitive
GPathogenic
MPLKIP
(G17S)
Single nucleotide variant
(missense variant)
Trichothiodystrophy 4, nonphotosensitive
GUncertain significance
MPLKIP
(S165I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MPLKIP
Single nucleotide variant
(splice donor variant)
Trichothiodystrophy 4, nonphotosensitive
GPathogenic
LOC129998295, MPLKIP
(H50fs)
Deletion
(frameshift variant)
Trichothiodystrophy 4, nonphotosensitive
GPathogenic
MPLKIP
(S93fs)
Deletion
(frameshift variant)
not provided
GPathogenic
LOC129998295, MPLKIP
Deletion
Trichothiodystrophy 4, nonphotosensitive
GPathogenic
MPLKIP
(G46fs)
Deletion
(frameshift variant)
Trichothiodystrophy 4, nonphotosensitive
GPathogenic
MPLKIP
(M144V)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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